Chromothripsis

The chromothripsis phenomenon is the first type of chaotic and complex rearrangements discovered since 2011 and now grouped together under the name of chromoanagenesis.Its occurrence has been documented in cancers, congenital diseases as well as in healthy individuals. The phenomenon has also been observed in many animal and plant species, suggesting that it is a mechanism of rapid and deep genome reorganization widely used in response to various cellular stresses.The determination of specific molecular characteristics has allowed chromothripsis to be better characterized and to be distinguished from other types of complex rearrangements. Various non-exclusive exogenous or cellular mechanisms capable of generating chromothripsis have been evoked. Recent experimental models have highlighted three major processes that can generate a cascade of cellular events leading to chromothripsis. These mechanisms are the formation of micronuclei integrating isolated chromosomal material, the occurrence of chromatin bridges around chromosomal material resulting from telomeric fusions, and the abortive apoptosis. In all cases, the cellular and molecular mechanisms of fragmentation, repair, and transmission of damaged chromosomal material are consistent with the characteristics of complex chromosomal rearrangements associated with chromothripsis.Undoubtedly, chromothripsis is one of the most unexpected biological discoveries to emerge from high-resolution genome analysis. As a mechanism for rapid genome modifications in germ lines and early development, chromothripsis supports the concept of macroevolution and can be regarded as a credible mechanism for speciation and organismal evolution.